Title: A "Special Boy's" Mystery Genetic Disorder: One Dad's Crusade To Find Answers, An Interview With Matthew Ciciretti
In this heartfelt episode, Laura interviews Matt Ciciretti, a super dad of five kids, two dogs, three cats, and a goldfish. He shares his journey with his 10-year-old son Mark, his "special boy," who was born with a cleft lip and palate, and developmental delays. Doctors also recently discovered an undiagnosed genetic condition, an apparent bone marrow disorder, that has left the medical community puzzled. Mark specifically has a partial deletion of his 21 chromosome, called partial monosomy syndrome and on his 22 chromosome, he has a partial addition called partial trisomy syndrome. These syndromes are so unique that there isn't even a database of children like Mark. So the mystery remains. Mark suffers from spontaneous nosebleeds and often requires trips to the emergency room with subsequent transfusions and hospital stays. Navigating the healthcare system can be challenging, especially when your child doesn't fit the classical mold of a diagnosis. Matt discusses his experiences with various physicians, the obstacles they have faced while seeking answers about Mark's condition, and the importance of advocating for your child's medical care.
Key Topics:
1. Journey With a Child's Undiagnosed Condition (0:00:01): Matt shares the beginning of his journey with Mark, who was born with a cleft lip and palate and a unique genetic makeup that doctors have struggled to diagnose.
2. Unidentified Cause of Low Platelets (0:16:03): Matt discusses the challenges faced while trying to identify the cause of Mark's low platelets, leading to multiple hospitalizations and tests.
3. Advocating for Medical Care (0:25:43): Matt shares his experience of pushing medical professionals to provide additional information and insight into Mark's condition, eventually leading to a mild autism diagnosis and access to resources and support.
4. Navigating the Healthcare System (0:42:04): Matt expresses his frustrations with the lack of accountability and transparency in the healthcare system and the emotional toll a lack of answers can take on a family. However, Matt applauds the efforts of Mark's pediatric hematology team.
5. Supportive Relationships in Times of Need (0:55:17): Matt reflects on the incredible support he has received from loved ones and the importance of maintaining resilience in the face of challenges.
Advice for other parents in similar situations:
- Find a physician who truly cares about your child
- Explore options for top-tier medical care, depending on your insurance
- Seek support from loved ones and professionals to help navigate the healthcare system...Matt offers even more advice in the podcast.
Don't miss this inspiring and informative conversation with Matt Ciciretti as we learn about the challenges of parenting a child with an undiagnosed condition and the importance of continuing to advocate for his or her well-being.
Connect with Laura
Email: lauramarie@desperateforadiagnosis.com
Website: www.desperateforadiagnosis.com
Youtube: https://www.youtube.com/@desperateforadiagnosis
Facebook: https://www.facebook.com/DesperateForADiagnosisPodcast
LinkedIn: https://www.linkedin.com/showcase/the-desperate-for-a-diagnosis-podcast/
Mark as Played
Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
It's all in your head. You don't look sick.
(00:03):
Your tests are normal. It's probably anxiety.
There's nothing wrong with you. Have you heard these words from
Physicians family? And friends if you're someone
who has been struggling and swirling through the revolving
door of healthcare to find answers about your health, or if
you know someone who is going through this experience than
this podcast is for you, welcometo the desperate for a diagnosis
(00:27):
podcast with Laura no zika. Ah ah so dedicated to exploring
the challenges of living with undiagnosed or rare medical
conditions, this podcast explores both sides of the
bedside. We will be speaking with
patients who have had challengeswith finding a diagnosis along
with experts in the field either.
Host Orono. Zico, please note.
(00:50):
I am not a medical professional.Nor am I affiliated with any
health care, pharmaceutical, or device company.
I am an entrepreneur and I am anindependent Market.
Researcher focused. And helping Healthcare
organizations, Better understandthe patient perspective.
The podcast is not meant to offer medical advice but to
merely share the stories and perspectives of podcast guests.
(01:13):
Hello and welcome to the desperate for a diagnosis
podcast. I am your host Laura no zika.
I'd like to welcome all of you today but I'm more importantly
would like to welcome our gueststo is Matt Cicero Eddie who is
not only a stellar guy in. My opinion, but the super dad
and he's here today to talk withus about his journey with his
(01:37):
son, Matt. Thanks for being here today.
I really appreciate it. Thank you, Lord.
Great to be here. And like I said, privately, I
love the concept and topic for this podcast.
It's it's it's beautiful. Thank you, thank you.
And I am thrilled to be learningmore about you and your son's
(01:58):
Journey, tell us a little bit. It about you first because I
know you have a house full and you have a lot going on which is
what makes you super dad. So, tell me that being super
dad. Well, thanks, yes.
So I am a five kids total three stepkids and 22 from a previous
(02:19):
marriage. And we have.
So we have a daughter who's 18 in college.
We have a our son who is 15, another son 13, Mark, who will
talk, who's the? So we'll talk about, he's 10 and
(02:42):
then my youngest is 7. And we also have two dogs, three
cats, the whole, the whole, the whole family, the whole crew,
there a goldfish in there. Something there is actually a
goldfish and then some of them didn't didn't make it.
Now there's just one floating around aw, poor guy and of
(03:03):
course then there's wife right? Let's not forget, oh yeah, the
centerpiece of the family for short and then, and then there's
there's There's my kids mom, who's a?
Fantastic mother and advocate for our children and we, we
(03:24):
really are very much aligned on our best best interest in Need
for our children. So Very blessed, my full
holistic standpoint of everybody.
I'd consider part of a family unit.
Yeah. And you're a nice guy.
Like I said, yeah. That's right.
(03:45):
Yeah. It's all good.
Just make to say, thanks. Thank you.
Yeah, well today Matt I know we're going to be talking about
your son Mark and I've seen pictures of you and Mark
together both of you with your big smiles and seems like
regardless of what's going on with his journey.
(04:05):
He's just a happy kid, and plugging along.
So, Matt tell us where it all started.
Yeah, so I mean, So mark, it is Mark chars a very special child.
I mean, he's had complications and challenges really since
birth, he was born, he was born with a cleft lip and palate,
(04:29):
which they found that like 20 week ultrasound and then even
at, then they sent us for like an MRI and at at like at the 20
21, 22 weeks MRI, they identified that there was some
like inter-cranial brain hemorrhaging going on, which
(04:51):
Only the level, they put it at alevel one, which, like level
one, they don't always pick thatup in utero because they're not
doing MRIs on babies alike in utero a lot.
So it's could be more common than it is.
They don't know but they identified it.
So we had to monitor that all through the pregnancy to make
(05:11):
sure that it didn't Elevate likea level two or three would would
have been more severe. Fortunately it didn't.
But when he was born, He did have a cleft lip and what we
weren't sure about was the palette palette was definitely
cleft as well. It's been, it's been a, it's
been a couple days in the NICU and then The NICU physician who
(05:36):
was it was tremendous identifiedthat there might be something
going on and ran genetic testing.
And what we what came back was that he has a he has like He has
a partial deletion of his 21 chromosome.
(05:56):
So 21 Cube partial Mana. So me syndrome is what it it's
labelled as and then on his 22 chromosomes and he has a partial
addition. So he's got an extra extra 22
chromosome, that's 22 Q, partialTrisomy syndrome.
So with that in conjunction it than the way my understanding
(06:20):
Not as a medical professionals apparent.
Is that where the additions and deletions are like?
So unique that there isn't really a database of children.
Like, Mark, we went to ours, ourCity's top genetic, counselor,
and unfortunately the feedback was, there's nothing in our
(06:44):
database. And so we just going to have to
say and and Matt He was, he had that genetic testing right after
he was born or further development, know, like like
pretty much like the first couple days of life when he was,
okay? Ran the genetic tests on him,
got that back. And then probably like maybe six
(07:07):
months or a couple of months. After we went down, we went down
to meet with with the genetic counselor.
And actually I'll never forget it was very frustrating.
We had, we got down there about a half hour early for our
appointment. We were in the wait, we're in
the lobby waiting for an hour longer than that?
(07:30):
Like then we were expecting. So then, I started just asking
like her. What's going on?
They moved us into like a room, which I, which I think I
jokingly said, like, they could tell we were, I was getting a
little getting a little frustrated, so they put us in
solitary confinement for anotherhour.
What does that mean? If I mean State and they took us
(07:51):
out of the lobby where we were getting, where I was starting to
question why it's taking so longand they put us in.
Like, I'll patient room like an empty attending physician room.
By ourselves for another hour towhile they, I guess caught up to
their work on man. Now I started wandering the
halls and then people fight. If I lie that are that are
(08:13):
counter by the came in, but theywere in and they were in there
for like five minutes and they're like, yeah.
We there's no one like him. We don't know anything, he's
kind of like an N of 1. So we'll just have to say.
And like they started to walk door and I was like, no, you
know, it's like I have questions.
Yeah. What kind of questions did you
ask why? I just said, like look I was
(08:34):
like, I'm not gonna hold you accountable because I know, you
don't know. But like just I can you give me
some kind of range or a baselineof like what could we expect?
As he as for his development, ashe any conditions Etc?
And that she didn't really have much, but she said he could have
a reading, he could have a reading delay and a speech delay
(08:54):
or he could be 25 years old in aburning building.
That's on fire. Not realize he needs to get out
like we don't know we're not going to know, we're just going
to have to progress and see there's no one with his medical
history that we can use as as a frame of reference.
So so that was our first really undiagnosed this with Marnie.
(09:17):
Yeah so you weren't you weren't really sure then at that point
what this mutation really meant and what what body systems it
might affect how to even I helped him along development Lee
so you're really up in the air at this point this to.
Yeah, maybe. So he's how old at this point?
(09:38):
He's a baby stove, right? Couple months six months.
Maybe like we had, we had no. Yeah.
We had no sense. Really.
I mean, it started to get a, we started to get a little bit of a
sense when there were certain developmental Milestones that he
wasn't, he wasn't, he had, he had some of the early early.
(10:00):
Ones. But there were a few that that
he was missing. He's very severely delayed even
today. With speech.
What is mobility? He was like, Not really, I
wasn't walking. He had he had low tone, they
were saying so he wasn't like walking.
When other kids start walking and low tone meaning muscle
(10:22):
tone. Yeah, he didn't really walk
until he was about 2 years old, maybe a little two-and-a-half
like it. He was definitely behind on.
That was crawling for a bit in that period, but we just tell,
he was obviously behind those milestones. speech was always
and speeches is something because of his cleft lip palate
(10:45):
and he's had a pretty significant speech delay where
We he was virtually unable to really say much other than like
m words like my mom. Never liked his mom best or
better. Hey it could have been the case
(11:07):
at the time. She was, she was she was, I was,
I was working, she was staying at home with him in.
There was a lot. She was putting a lot of time
into him. Thankfully, she was able to so
could have been the case, but that's to this day, you like,
you still can't really dude, he's very well.
So, what up, when he was around three or four e-stop, I stopped
(11:31):
really trying to get him to callme dad or Daddy, because he did
start to develop the ability to say peas.
So, We he switched he on his ownswitch to calling me Papa.
And that is what I am to this day to him.
Papa now, what's happening in the meantime, then Matt, with
(11:57):
the development of the cleft palate and cleft lip happening
in the meantime, what's going onis you're kind of just sitting
back watching this happen and yeah, I mean, okay, what's next
Yeah, I mean, so we lined up with the plastic teams and they,
they corrected, AS Palette, theycorrected his lip, they came the
(12:22):
they play. Stick surgeon at the hospital,
we went to was just phenomenal. Like, is truly like work of art
and During all that, there's other things that are now
bubbling up like, because it wascleft lip and palate, he was
never really able to be bottle fed.
(12:42):
Well, so he had like, he had an NG tube going for a longer for
six months, but That getting hitgetting that running it through
for him. He I mean he was like very just
he pull it out as a baby so we made the decision to switch to a
(13:03):
G-tube so he has like G2 button now and even to this day he
still getting, he's still getting the primary and
nutrition comes from. He gets about six cans of pedia
sugar a day. Through through his through his
G-tube, the we've done speech with done speech, clinics.
(13:24):
We've done feeding clinics Peace.
He had a couple of years ago about two to two or three years
ago he had PFF surgery. It's like posterior flap
surgery, where Essentially like he had to like kind of seal up,
(13:48):
I think. forget exactly what it was but like they, yeah, they
essentially like sealed up a bitof his the back of his throat or
his palette because there was like a big was a big like hole
between his Between his like nasal and his oral passages and
it was causing it was causing feeding and swallowing issues.
(14:12):
And Apnea type things. But through it all it's been the
happiest kid. You'll ever meet, it's my mean
like there's nursing teams at the hospital, we go to where
when they hear that he checked in these nurses and might not
even be him. They come running down the floor
(14:32):
because they want to say him like they just he's a he's a
little charmer I'm guessing he is just like she's just so sweet
like I'd say from a developmental standpoint, we
he's made a ton of progress for like from speech and If their
(14:55):
behavioral emotional these kind of like a, he's probably
developmentally on par with likemaybe a two or three year old
ranking. I'm sorry he's held again.
Well, so he's 10 but okay, he's probably in some ways.
He's a little more advanced, butI think on aggregate these about
(15:15):
developmentally on par between like a two and three year old.
Mhm. So are the doctors saying that
that's attributed to the? This is gene mutation at this
point, or is there something else?
Well, it's, it's They're not really saying it's tributed to
it. It's just, he has a, he has,
(15:37):
what's like, what's called? They're calling it.
A, my originally, it was a global developmental delay.
And now it's a now it's considered like a mild
intellectual delay with a significant speech delay are not
saying what it's really attributed to directly.
But whenever they're mentioning,what the whenever they're
(16:00):
mentioning, what the The runningdown is issues.
They always start with his genetic issues with his with his
translocations, and then they, then they they lead into that.
So of alluding to it at this point.
Is he and a in school, or special program, where yeah
(16:21):
Point? Yep.
No. I mean, no, he's so we got him
in. We got him into like early early
intervention like almost almost right away when he was when he
was when he was very young. He's going to his mainstream
school. He's got services that are
provided to him through the school district.
(16:43):
He's in breakout classes. He's got a pretty significant
IEP and there's he has like a one-on-one care while he's
while, he's in school. He goes to his special break
away like he starts his day withhis regular class and then goes
to his special breakouts. Comes back for like the special
activities like Jim and whatnot.There's other services that he's
(17:04):
qualified for where he'll have like a like a like a like a BSC
and like a TSA thinker so which is a whole nother care team that
kind of has come in and provideda lot of Behavioral and most
support for his development. What's his favorite class?
(17:25):
So he loves art and loves art. I think it's a combination with
Like art and Jim Wright. Like he loves the love Stone,
the physical stuff even if he's not really, like competing right
at Alma but he also he is actually he's very artistic in
that way and he just gets so proud when he comes home and he
(17:46):
even early stuff. When it was just like he just
you tell you just like slashed paying on a on a page, right?
He was just so happy to pop up, come on.
So it's not a, it's definitely the one that I think he takes
the most get enjoyment out of and pride.
Yeah, that's kind of do a lot ofit or with them.
So yeah. What the developmental?
(18:10):
Milestone issues ETC that you'vehad with him.
And that that journey is I understand it.
Matt, some other interesting symptoms came along and this is
what you're you're looking to get some answers for.
So talk about talk about that. I mean, it's not even that long
ago, September of last year. They were they were at their
(18:33):
mother's house and she notified me that he had a bloody nose
that wouldn't stop trying to getit to stop.
So it had gone on for almost a half hour and at one point he
lost Consciousness and which yousee would Panic anybody.
So she called 911, the ambulatory team came picked him,
(18:56):
got him, took him down to, you know, are the Children's
Hospital. In our area, where he was a, he
was admitted almost right away. I'm, I went to.
She was, she was in the ambulance with him and his
brother went with stayed with One of the grandmothers and then
(19:17):
I went down to the hospital to meet him there.
So I we all got there, we all got there at around the same
time. And I wasn't really sure like
what was going on because then nobody was.
But like, Wait, when they were taking them out of the
ambulance, he seemed like in somewhat good spirits.
(19:38):
Like he first thing he said to me was like almost Halloween
Papa which like, because it was close.
Well, I think okay, so he was just there was this kind of
operating on that topic for a while.
So we get him into the hospital.They've met him. and then at
while running some what they ransome tests and one of the things
(20:02):
that came back was that his platelet counts were really low
and his hemoglobin levels were really low, but he also had
like, a really high like, like areally high Lycra cichlid eight
count, which the the mixture of those numbers weren't telling
the like they weren't telling a clear story, so they They
(20:25):
brought in the hematology team, which essentially ended up
taking over from that point, he was in the hospital for a week
from the time he was admitted. And there was a lot of testing
being ran, he got multiple platelet and red blood cell,
transfusions and and then they did a bone marrow biopsy and
(20:46):
that is where they uncovered that his the cells in his bone.
Marrow are like In some ways only like ten to Fifteen fifty
and 10% of what they should be in a lot of air.
So there was like some there wasthere was there was definitely
(21:09):
concerned there and then and that is really started the
journey that we've been off since then.
None of this was on our radar asa real issue but Since then.
Like we have he is he's had he said a few other bleeding and
(21:31):
nose bleeding incidents. It's probably been hospitalized
since September about so six or seven times.
Well boy each time. is usually for, at least a At least 56 56
days because they have to they do is they get a Min, they get
(21:51):
his levels, right? The other thing that we battle
to is that We have to try to keep him healthy and virus free
during the first couple of like,during the first visit to the
hospital, he had. He had like, she had like a like
(22:12):
the flu or a virus of some kind,right?
Suppresses his bone marrow. He also because of his cleft lip
and palate and Souther, like neighs nasal thing, like the
pipes in his nose. Don't work the same way so he
can't blow his nose as easily asyou were.
I could be can't like I can't doit.
So there there, there tends to be a lot of vegetation as he
(22:37):
tries to like clear his name hisnasal passages and a lot often
what we've seen is a lot of times now they can lead to a
nosebleed which then doesn't stop, right.
Get low. But like what we found out over
the first couple of months was that every time we were trying
to get like an accurate read on what is counts were post the
(22:59):
transfusion to see like where where where things were He had a
virus, he had the flu, he had Mono, he had like, all these
things that kept clouding. The, the view of what is what is
actual cell levels, should be doing, and what is actual
(23:21):
platelets and, and hemoglobin should be doing.
So, what what Physicians are on his team right now?
Let me divide them doctors yet, strictly for this is he's
working with the hematology team.
Primarily we have looped in, we had the loop in the GI team
(23:44):
because His hemoglobin kept dropping and we couldn't figure
out why and they didn't seem to really be anything that it was
like. It didn't we thought, maybe
there was like an internal bleedaround somewhere.
In his G-tube site that might have been like just slowly
bleeding a little and it lowers it so we brought GI and and they
(24:11):
actually found a polyp on his Inhis butt.
That was a bat. Pretty, pretty inflamed.
They shortest nothing to be worried about their kids, get
these all the time. They're not cancer.
So So, they had to remove that recently, right?
(24:36):
It's a go, but like, we ended upgetting winded up, getting a lot
of testing done over the first couple of weeks and months after
this and they were they were first.
They were testing for things, like leukemia and Other types of
like rare rare rare Cancers and then other human hematological
(24:57):
conditions. And they pretty much ruled out
all the stuff that they were looking for.
Mmm. So which then left us in a spot
of, there's something going on with his bone, marrow affecting
his platelet production and possibly is hemoglobin.
And But we don't know exactly what it is.
(25:21):
We don't know what they're like.It's it didn't line up with
like, aplastic anemia because his levels were typically higher
than what someone classified with a place to give me me.
It would have liked his platelets.
Cannot attend to hovered right now around a 20 or 30,000.
(25:44):
The concern is that he's shown no ability to stop a bleed at 20
or 30,000 platelets. Like, the last time, a nosebleed
that hospitalized him, it's platelets, were around 25,000,
which they typically don't want to do a lot of stuff unless they
drop drop down to like ten is kind of like the scary scary
(26:05):
point. But is that how is that?
How this manifests through a nosebleed typically?
Have you met her? There's something going on.
Well, No. So like The nosebleed.
So like you can tell when his hemoglobin is low because he
gets like diaphoretic and like real, like, like winded and out
of breath running around. The nosebleed tends to indicate
(26:32):
that his platelet levels are lowbecause he's not able to clot it
and stop it, right? What we're told is that at
20,000, he should be able to stop a nosebleed, but he is not
being able to stop a nosebleed at 30,000.
Mmm. So we're kind of so like, they
haven't been able to classify itas Aplastic anemia, right?
(26:56):
Because you need to your levels accounts need to be
significantly lower for them forAdam to match that criteria.
and, I mean, the closest we got to a diagnosis was like
idiopathic Well, actually no a doctor we asked about, could it
(27:21):
be like idiopathic thrombocytopenic Nia?
And is that something that, you know, you had researched or is
that something passed out? We like, like like ITP is
essentially, like an unknown. It's well.
So idiopathic thrombocytopenic. Purpura is like an autoimmune
(27:43):
disease, right? As low platelet so it's not,
it's not TP, which would be like, immune thrombocytopenia
Torah. But It is it do what they've
basically called it. As idiopathic thrombocytopenic.
I, which is an unidentified cause of low platelets?
(28:06):
I'm like, frustrating thing is like, yeah, no kidding.
We thought we d 0 idiopathic anything is frustrating because
you have no answers as to where it starts and what's causing it.
So, what's on the what's on the list?
Next steps are, is that where things have stopped with this?
Diagnosis. No, I mean because it's because
(28:28):
like that's not even an officialdiagnosis that was me.
I tend to I tend to press the medical professional to give me
something like I know it's not that I It's not that I want to
hold them necessarily accountable but I'm like your
you have a lot of education and experience around this.
(28:52):
I'm sure your gut is telling yousomething like, tell, share that
with me and I just so that I cankind of put my head, where your
head's at like, yeah. How do you, how do you get move
through that process of pushing the Physicians to dig for more?
(29:13):
That experience Loney. It depends.
It really depends. I think on the relationship that
with the position they're there.Their experience or /
motivation. Like the thing I will say about
mark, C mythologist is I really feel like he, this doctor really
(29:36):
is fighting for Mark, and reallycares about him and wants to
resolve it and figure it out. He's also very like, there is a
scientific process that that hasto be followed around this and
an r and I respect that but likehis Indication like soon as we
(29:57):
get lab results we're he's on the phone with us.
Talking to through giving us histhoughts.
He Fields questions no matter how out there and obscure, they
might be like, asking, like should we be should we be giving
him like to we giving him this? We'd be not giving him that.
(30:20):
Is it, could it be this or that?And like, As a medical
professional, he probably. Well, I think a lot of times,
you ain't as a parent. Sometimes you ask these
questions and the doctors kind of like roll their eyes or their
like this is all right Google dead or Google mom and it's like
he never get that feeling from him.
He's always very willing to answer a question so he he has
(30:45):
done a fantastic job with this. Have you felt that way with
other doctors so maybe feeling? I mean we're It's but how would
you describe it? I mean, there's been other
scenarios with bark where we're like fighting to get to get him,
(31:06):
fighting to get him seeing fighting to get him.
Like fighting for like one of the things he doesn't fit the
classical mold of autism, right?And four years, there was a lot
of services and benefits that hedid not have access to because
(31:28):
he didn't have an Autism diagnosis. and, That was a
challenge for us. So we met with Developmental
Pediatrics and they were really unsure at the time about About.
Hey, like the argument is he's so social, like, he'll go up to
anybody and say hi and hug them and just send want to tell him
(31:51):
everything about what's going on.
That they're like he's the argument was like he's to social
for these two social to be autistic in this case.
But interesting and we got a second opinion and they they had
said he might be social but it'snot the right kind of social
like he's not going up and holding a real back and forth
(32:12):
conversation will go up and whole show you what's in his
hand or tell you what he wants to do or ask about the vacuum.
And you might try to ask him another question and he just
repeats the vacuum thing. I'm so he's got a high energy,
but is the social ability that he needed was, isn't there?
So it's not a conference at a conversation or an exchange
(32:34):
wasn't like a direct conversation.
And so then we were able to go back and really kind of advocate
like like you're saying that he's not autistic, but he's also
not not autistic like he's got to be some its Spectrum.
He's got to be somewhere on there.
Uh-huh. I've how he communicates What is
social ability is and they endedup winded up, it ended up
(32:58):
getting getting approved, that he had, he had a, he has a mild
autism diagnosis now. So he's able to get a lot of the
therapies that were closed off to him be fired, just because he
didn't have it. So I mean that was like
frustrating but positive outcome.
We've had, I did, you find how did you find those resources or
learn about those resources fromthe the autism standpoint?
(33:21):
So actually the rest of his careteam.
Like the nun, the non-physician care team.
So his BSC his TSA. They the like, what does that?
What does that mean? Matt.
Who are those things? Like, he's like a behavioral
specialist counselor there, likea behavioral services counselor
(33:42):
and they came to us through A state state sponsor.
Behavioral behavioral group. It was at one of the services,
they provided and we've worked with we've worked with with,
with them for a long four years,since he was a baby.
(34:05):
So let's be a see it time was a huge advocate for him.
And really as old cunt, like worked hand-in-hand with us to,
you know, do do ensure that the therapy treatment and treatment
plan that we were trying to execute was being done across
all all settings, right? So my house, their mom's house
(34:28):
school but then at the same timeshe ended up really beat, be
becoming a big advocate for For men was able to had access to
research, we didn't have was pulling that was putting us in
touch with other people to talk to to get to get language or
second opinion. So that was a huge.
(34:49):
That was a huge resource and asset.
So, where are the doctors now interms of where they think this
genetic mutation fits into the scheme of everything that's
going on with Mark? Yeah, so actually it was pretty
interesting, the hematologist was looking at his genetic
genetic Leia over like mutation and they said, he said that
(35:15):
there is a He can't, he doesn't know for sure but based on where
the I think deletion is in chromosome 22.
There is, it was right by a part.
It was right near like a gene orthe seller, whatever.
(35:38):
I don't know exact template thatcould could lead to.
Could could could indicate like low low platelet production or
something else, but it didn't really at that.
Then they ran like a like a pretty broad genetic tests on
(36:00):
him for a variety of things and like nothing really came back.
Like we didn't really get any hits, like what it did?
Was it ruled out some of the more rare conditions there's
like franconi or and like a few others that that it ruled Doubt.
Really though, I mean, what we what what we've been doing is
(36:20):
kind of monitoring and maintaining trying to maintain
certain levels for him. So like once a week, We're now
taking him to get blood work done.
They checked his bubbles if theydepending on where they're at.
If they're in a healthier safe space then he will he's finding
(36:42):
a home headed. If he needs a transfusion though
would then we're getting, we're getting a transfusion that week.
So we're averaging about a transfusion, every two to three
weeks at this point. Wow.
So it's like blood work and really what's breaking?
My heart is Just he's really starting to get uncomfortable
(37:02):
with the needles, the amount of needles.
I mean, I used to joke around, he got needles so infrequently
before that, he would get excited for them, so we'd be
driving the doctors, he'd be like needle, Papa, needle
needle, and like a yellow scaredwhen it came out.
But then he'd be done and he wasfine.
But now he's getting stuck everyweek.
(37:23):
Mmm times. If they don't get a good line or
they don't, they don't get a good stick, they got to take it
out. And do it again and when IV
stick is a lot different than just a blood draw stick.
So, like, yeah, how do you explain to him?
What's going on? Because of the developmental
level? That he's at Amanda, it's hard
because He's not always focused on your explanation.
(37:48):
Like, when you're taking him to the doctors for blood work, like
he's like pretty happy and jollyon the way in.
But once he gets in the chair and they start, they start
getting them prep. He starts to get panicky, and at
that point, it's like you can't,it's hard to calm down.
I mean, now we're just we're at a point where like just need to
(38:09):
get a couple of nurses that holdhim down and I hold fire, their
mom will hold them and At him and then they just, they get it,
they get in, they get out and they move over, huh?
And really it. Once it's done, he's like, he's
like a piece, like it's back to normal, he's wants to know, like
what are we going to? Like, can we go play now?
(38:30):
Like, but there's not much that you can really do to kind of
talk him through it, because likes like, Even if you had set
sat down had a long conversationwith him.
He he wouldn't be he wouldn't retained.
All the info the same way that worthwhile to do and I do sit
(38:51):
there. You know, it's like he's in
trouble for something. I will sit down with them and
like, have a have assets. Have a serious talk and I'm
like, you know what I'm saying? Mark and yes, and I know what
June is like you were done there.
It will be like Papa play. Like he like get home.
Them. He's got his little one track
mind that he's thinking of, but it's a lot, Matt, especially
(39:16):
with a big family and all the responsibilities.
And how would you speak to how this has affected your family,
and how do you cope with with this little guy and all he's got
going on? Yeah, I mean, I try not to think
(39:38):
too much about like all the other stuff Mark has going on as
like anything other than just like this is Mark.
Like like there's no perfect youknow, right?
You know wrong like this is him and like there's no regret like
there's nothing. There's no lamenting, like a
different version of Mark. Like this is him and honestly,
(39:59):
he's a blessing. What is what has been
challenging is with this? No bone marrow, IT issues that
we're facing in the and the bleeding concerns in the blood
levels. Like, it is a very traumatic
experience for Mark when he goesinto the hospital with a bleed
(40:20):
that won't stop. It's a very traumatic experience
for all of us to witness it sometraumatic for his younger
brother. Who Doesn't doesn't quite like,
I mean, it's like younger brothers asked me in the past
like was is marking a die. And I'm like, that's a good kid.
(40:43):
It's a good question to ask and I you should because you're
definitely allowed to ask it butWe're all going to die someday,
but he don't like is Mark dying right now.
No, we don't think so. The doctors are working to take
care of them, and everybody is making sure he's safe and
healthy and but it breaks your heart when your kid asked that
(41:06):
because they don't know they're coming from a place of fear and
innocence, right? So it's a hard.
That's a hard question to to tryto answer and then you go to
bed. And what do you think about it
night, Matt? I mean I tried look as a parent,
it is very easy to go to the darkest place in your mind about
(41:28):
what's going on with your kid. What could happen?
What would how would you feel ifit did happen?
Like And I really every time I get like a negative thought,
like, what happens like, could he die it?
Can he die from this? Theoretically, yes, but is he
there now know so like I really kind of like conditioning my
(41:54):
brain, but like when I start thinking - I tried I will like
look at happy smiling moments with Mark on my phone or I'll
think of something where becausehe is, so positive through it
all. Like I keep telling myself like
who am I to not take his attitude through this as like an
(42:17):
example to to follow, right? Like, who am I to ignore?
Where his your yeah. He's your role model.
Your hero. Yeah.
And he shouldn't be here. You're his hero yet.
So. So, what's next for him?
What's next steps for you, for you to figure out what's going
(42:37):
on? So, really the treatment options
that we've been presented as like the main treatment options
are He's likely would likely need a bone marrow transplant at
some point, which is has. It's concerning like that.
Just like that a neat. It's super easy procedure.
(43:00):
And there's a lot of there's risks involved.
The other potential option wouldbe like immune immune therapy
immune immune suppression therapy which my understanding
is he's given drugs that would essentially eradicate his immune
system and then for a period of time and then he's given drugs,
(43:23):
that would help rebuild it from scratch, my concern, there is
that he Mark is the kind of child that if he's walking down
the street, he will pick go. Come up off the ground and chew
it. Not really even tell you just
how dumb and that he's sick. He's constantly dealing with the
cold or sniffly nose or something like that, because of
(43:46):
thing because of his self self self care abilities.
So, so there's a little bit of alittle bit of concern about
that. Also, those are the two options
that we've kind of been presented with, did game and
hematologist. Did do a lot of the legwork for
us with insurance so that like, we can start We could start
looking for a bone marrow transplant.
(44:07):
Donors, they did find a few likewhat's considered a perfect
match. I think they found 12 in the
database that match and and 12. There's about maybe two or three
that are considered a perfect match.
So I'm so you got to make sure they're still willing to donate
but Prior to that, we had had blood work done on his brother
(44:27):
because they apparently your sibling is your best potential
mesh, right? So, um, Yeah.
So and then really before they do any of that which could still
be another six to eight months out there, Mom.
And I actually have to go soon and get genetic genetic testing
(44:48):
done because what the doctor wants to do is run a essentially
identify if there's any genetic markers in us that would lead to
a higher risk. Bone marrow, transplant failure,
or rejection and they apparentlythey can uncover that by doing a
(45:09):
really broad a really wide genetic genetic profile on both
of us. Interesting, have you had any
difficulty with getting genetic?Testing approved.
No. I mean not in.
Getting it approved. Like the doctors.
Absolutely will do it or I mean like like the teams will do it,
(45:30):
it just all has to go through. It has to go through insurance,
right approve. And that's where I think our
doctor has been a great advocatefor us because he knows exactly
what to say to get it approved. He's not lying like If I were to
call up and do or try to deal with the insurance company and
(45:53):
be like, I my kid needs a genetic test, I wouldn't be able
to speak to it in a way. Where's their doctor?
Where's our doctors? He's been fantastic about that.
Wherever we have a reason he's making the case for you.
Exactly? Yeah.
Yeah, that's great. So Matt, what what would you say
(46:14):
you've learned about the Health Care system from this process?
I mean, I think like my biggest my biggest frustration with just
the Whole Health Care process islike I think there's like
there's no accountability to actually provide answers.
(46:40):
It feels like and I get that andI know where that comes from.
In that like all the malpracticethat has happened over the years
and as the, the lawsuits and absolutely Doctor doesn't want
to say, well it's it could be this and then it's not and
something else happens and then like, but like I think there
(47:03):
needs to be some kind of agreements, I'd love I'd, I
would sign an agreement or doctor to just speak freely, to
me, well, what thinking, what doyou think?
I like won't hold you accountable, but give me some
things that I can just read up on to bring myself more up to
speed like It's very frustratingwhen they know there's something
(47:25):
wrong you don't know what it is.And all they're doing is
checking the where they were like, what's the current status
now? Does it do we need to do
something right now is plateletslow now.
No, okay, then he's fine, you can go and it's like, but I
still like what? I like the place I go when you
(47:49):
do that for months and you don'tknow what Heck, it could be
causing what what they're checking for.
It's frustrating, they were yeah.
Limbo is a hard place to be and you've been there for a while.
Now, if if the Healthcare Systemadopted what it is, you're
suggesting in terms of being able to have a very open
(48:11):
conversation, how would that change your journey thus far,
and going forward? Well, I mean like, So you're
told what are the symptoms of something that unknown, right?
Like we don't know what it is but these are the symptoms that
your child is experiencing Come see us in a week.
(48:33):
Now, you're looking up all the symptoms, right?
And it's freaking you out. Like I think that the amount of
emotional trauma that people inflict on themselves with
unknown diagnosis or Medical issues.
It's not all about knowing definitively like two or three
(48:54):
potential outcomes that could beit's not knowing anything and
then doing your own crazy research with not it's not that
the research is crazy, but there's just so much out there.
Well, huh, links to so many other things and you can really
drive yourself nuts. Like, trying to, like, wait a
minute. Okay, hold on.
(49:16):
He has this. And now That says, it could be
this kind of cancer, which killsthem in 3 months, what's going
on? Like, you can really scare
yourself silly and With with L, any kind of real frame of
reference, just trying to research on symptoms.
So, like, I could sign somethingin the doctor could just be,
(49:37):
like, look, I definitely don't think it's these these couple of
things. These are the three things I'm
looking into. You might want to read up on
yourself. Can't say it's any one of them,
but I feel like I have enough ofan understanding of what's going
on with your son. That these are the ones that I
want to look into more. Some, that would be Like a
(49:58):
really educational. I feel like it'd be like a
partnership dynamic between you and the you and the doctor, but
the, but as a, as a parent, you'd have to be willing to
mitigate or own some of the riskof the doctor like you'd have to
free the doctor of the risk of like well if there's one thing
in there that I said, that wasn't a hundred percent
(50:19):
accurate. Now my entire practice or
livelihoods at risk. Sure.
Yeah. It's white regard themselves, I
get it but like there should be an option for people.
People to kind of weave that fora more transparent conversation.
Yeah. Sounds like the bottom line for
you is you're looking for collaboration with your your
son's Physicians. What would you Matt if there
(50:41):
were other parents in your position who got to the point of
Bringing in their child, with this list of symptoms and going
months without answers. What would you suggest to them?
What would you advise them to doand how to manage through the
system to get answers? Yeah, I mean it's different for
(51:01):
a lot of people. We're lucky we're in an area
where we have some of the best medical care in the world.
If you are in a more rural area,you might have to travel to one
of these markets that has a top top tier physician team that can
be that can be challenging, especially Depending on like
(51:22):
what kind of insurance you have.And so there's a ton I would say
if like what I think has been really helpful for for us is
that like we found a physician that cares about our son.
(51:43):
Like he truly cares about our son to be honest.
He's not the most, like he's a pretty young doctor likes, not
like a Like is published all over.
Like he's very, he's very successful but he's a younger
doctor, there's older people in the hematology team had his
hospital that We, I guarantee wewould not have had as good of an
(52:06):
experience with, because of justtheir 10-year there, there their
bedside manner there. Variety of those reasons.
I would say if you're talking, if you don't feel like the team
or the doctor that you're working with passionately cares
about the Health and Welfare of your child, it's, you'll do
(52:28):
better finding a doctor. Maybe less less credential, but
more compassionate to work through and talk through with
you. And, I mean, we're lucky.
Our doctors. Well, credentialed and
compassionate, but But I would take.
I mean, I yeah I would take, I would take take, take a more
(52:50):
empathetic doctor than a more than a more established but less
less. Collaborative or or
compassionate mmm-hmm. So, empathy empathy compassion
is more important for you at this point as a parent.
(53:12):
I mean, watching your kid go through something, that nobody
even the top medical Minds in the in field, don't really have
an answer for like, someone's got to be understanding to that,
right? What's and what's an example of
how your physician your hematologist has demonstrated.
Strated that I mean like so we get blood work every week,
(53:34):
right? And I mean, not two minutes
before we get the notification in a, on our phones are in our
email that the results are back.Both our phones are ringing from
the doctor calling to talk it through with us.
Well, he always, he always give this time anything, you've read
(53:55):
anything, you've learned that you want to talk about.
I mean, I mean, I've gone Gone down some rabbit holes, right?
And it's really easy to go down.And I've brought up things that
could be couldn't be and He's never made me feel like I was
some wild conspiracy parent, trying to trying to think I'm
(54:19):
smarter than the doctors, like he's always had a very
evidence-based research based discussion around everything
that I and again, I'm not pointing the fingers anywhere,
but I am just like I'm trying toI'm looking for anything to try
to get some answers and he's ever made me feel bad about
anything that I've come across. And asking about it.
(54:41):
And he so that's like, that's really to me that's next level,
because a lot of time I've brought things up to doctors in
the past and they're like, nah, now there's research around it
that says that and I'm like, my first question is always yet how
many people were included in that research, that have the
same genetic genetic history. As my son is, my argument would
(55:05):
probably be 0. So, how do you know everything
that you're telling me? Which was researched is okay for
Mark. Might be okay for my other Sons,
my daughter because they've beenmore normal.
Genetic makeup of Mark. How many were like him in that
study? And Then it's been really, it's
been really a great experience. So, with working with our
(55:27):
hematologist, he's done a great there.
Any are there any Silver Lining singer for you, Matt?
I mean, Silver Lining is. There's nothing, nothing will
stop you in your tracks, as a parrot more, the than the fear
(55:48):
of something being wrong with your, with a child.
And I think when everything is kind of, okay, as a families,
especially big families but it'swe do have.
We all have our little lives that were managing on top of the
rest of the people that are in our lives.
And it's like, things can get bebusy with me or my wife, or our
(56:10):
daughter has a lot going on the college or High School, sons are
busy with that stuff and you just getting like a everyday
flow of life, but then when something like this kind of
presents itself, you have to pump the brakes.
And you do get, there's, you do spend a lot of time reflecting
(56:31):
on what's What's important, whatgets you through these things
and it's it brings everybody. I think it has brought everybody
closer in terms of like a concerned focused effort on Mark
and his care. It's reinforced that me and
(56:51):
their mother. Are both truly cut like a good
co-parenting. Team United for his best
interest. So those are some soy mean,
those are some Silver. Linings, I guess it's it.
It makes you pump the brakes andkind of appreciate everything.
(57:14):
Everyone around you a little bitmore and It certainly.
Certainly made me appreciate Mark and everything.
That How brave and how strong and how resilient this.
Medically, fragile and challenging child as he's one of
the strongest, strongest and most beautiful, just inspiring
(57:39):
people I've ever met and I just can't believe he's my son.
Aw, well, yes, these things do give you perspective in terms of
what's important. And I think you figure that out
and I'm sure he would have wonderful things to say about
his super dad to what do you wish for him, man?
(58:01):
For Mark. I mean I wish I just wish for
him too. Just be happy.
I mean it's not there for any ofmy kids.
Like, I wish that he didn't haveto normalize his medical
challenges in his own mind, likeit's normal for him to have to
(58:27):
get blood work. He doesn't like it, but it's
normal. Like I wish that that didn't
have to be normal for him brother.
Another like his other siblings.Like they go for blood work once
a year, right? Mark's gone. every week, every
at least once a week sometimes more so I, I just want him to be
(58:54):
happy. Yeah, one of them be happy.
I want them to be healthy. and, That's it.
That's all. So, you can ask for his
apparent. Everything else is out of your
hands. Yeah.
While that's pretty basic, but pretty significant at the same
time. So, Matt, thank you so much for
(59:15):
talking us through Mark story. And I'm hoping that maybe we
could get a follow-up from you at some point with regards to
what you make decide with his treatment or how the genetic
testing process, go. Goes, if you're going that
route, we'd love to have you back.
Absolutely. Yeah.
(59:36):
I'll keep you posted credit to you.
I really appreciate you following up with me and
checking in on him. Like it just means a lot.
It's nice to know people out there care about his well-being.
I actually have a couple of clients that I work with that,
just because I heard there was aperiod of time where I was out
(59:58):
of work while taking care of his, like, in the Little the
info just kind of came to them like a, my son steal something,
and I've just been like I mean, it's beyond like a work
relationship, right? And it makes you feel a little
less alone in the process. Well huh well it's a huge
reflection on you, man. Terms of how you treat people
and she is a product of you and so I'm sure he was an amazing
(01:00:21):
kid. Like I said I've only seen
pictures but he seems like a pretty amazing little guy.
So so thank you for that Matt and I'll hope to bring you back.
On again be great. Thanks so much.
All right. Thanks, Matt.
Oh my goodness, that's a wrap onanother compelling story.
(01:00:44):
Thanks for listening to the desperate for a diagnosis
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(01:01:04):
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(00:03):
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you know someone who is going through this experience than
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(00:27):
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(00:50):
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(01:13):
Hello and welcome to the desperate for a diagnosis
podcast. I am your host Laura no zika.
I'd like to welcome all of you today but I'm more importantly
would like to welcome our gueststo is Matt Cicero Eddie who is
not only a stellar guy in. My opinion, but the super dad
and he's here today to talk withus about his journey with his
(01:37):
son, Matt. Thanks for being here today.
I really appreciate it. Thank you, Lord.
Great to be here. And like I said, privately, I
love the concept and topic for this podcast.
It's it's it's beautiful. Thank you, thank you.
And I am thrilled to be learningmore about you and your son's
(01:58):
Journey, tell us a little bit. It about you first because I
know you have a house full and you have a lot going on which is
what makes you super dad. So, tell me that being super
dad. Well, thanks, yes.
So I am a five kids total three stepkids and 22 from a previous
(02:19):
marriage. And we have.
So we have a daughter who's 18 in college.
We have a our son who is 15, another son 13, Mark, who will
talk, who's the? So we'll talk about, he's 10 and
(02:42):
then my youngest is 7. And we also have two dogs, three
cats, the whole, the whole, the whole family, the whole crew,
there a goldfish in there. Something there is actually a
goldfish and then some of them didn't didn't make it.
Now there's just one floating around aw, poor guy and of
(03:03):
course then there's wife right? Let's not forget, oh yeah, the
centerpiece of the family for short and then, and then there's
there's There's my kids mom, who's a?
Fantastic mother and advocate for our children and we, we
(03:24):
really are very much aligned on our best best interest in Need
for our children. So Very blessed, my full
holistic standpoint of everybody.
I'd consider part of a family unit.
Yeah. And you're a nice guy.
Like I said, yeah. That's right.
(03:45):
Yeah. It's all good.
Just make to say, thanks. Thank you.
Yeah, well today Matt I know we're going to be talking about
your son Mark and I've seen pictures of you and Mark
together both of you with your big smiles and seems like
regardless of what's going on with his journey.
(04:05):
He's just a happy kid, and plugging along.
So, Matt tell us where it all started.
Yeah, so I mean, So mark, it is Mark chars a very special child.
I mean, he's had complications and challenges really since
birth, he was born, he was born with a cleft lip and palate,
(04:29):
which they found that like 20 week ultrasound and then even
at, then they sent us for like an MRI and at at like at the 20
21, 22 weeks MRI, they identified that there was some
like inter-cranial brain hemorrhaging going on, which
(04:51):
Only the level, they put it at alevel one, which, like level
one, they don't always pick thatup in utero because they're not
doing MRIs on babies alike in utero a lot.
So it's could be more common than it is.
They don't know but they identified it.
So we had to monitor that all through the pregnancy to make
(05:11):
sure that it didn't Elevate likea level two or three would would
have been more severe. Fortunately it didn't.
But when he was born, He did have a cleft lip and what we
weren't sure about was the palette palette was definitely
cleft as well. It's been, it's been a, it's
been a couple days in the NICU and then The NICU physician who
(05:36):
was it was tremendous identifiedthat there might be something
going on and ran genetic testing.
And what we what came back was that he has a he has like He has
a partial deletion of his 21 chromosome.
(05:56):
So 21 Cube partial Mana. So me syndrome is what it it's
labelled as and then on his 22 chromosomes and he has a partial
addition. So he's got an extra extra 22
chromosome, that's 22 Q, partialTrisomy syndrome.
So with that in conjunction it than the way my understanding
(06:20):
Not as a medical professionals apparent.
Is that where the additions and deletions are like?
So unique that there isn't really a database of children.
Like, Mark, we went to ours, ourCity's top genetic, counselor,
and unfortunately the feedback was, there's nothing in our
(06:44):
database. And so we just going to have to
say and and Matt He was, he had that genetic testing right after
he was born or further development, know, like like
pretty much like the first couple days of life when he was,
okay? Ran the genetic tests on him,
got that back. And then probably like maybe six
(07:07):
months or a couple of months. After we went down, we went down
to meet with with the genetic counselor.
And actually I'll never forget it was very frustrating.
We had, we got down there about a half hour early for our
appointment. We were in the wait, we're in
the lobby waiting for an hour longer than that?
(07:30):
Like then we were expecting. So then, I started just asking
like her. What's going on?
They moved us into like a room, which I, which I think I
jokingly said, like, they could tell we were, I was getting a
little getting a little frustrated, so they put us in
solitary confinement for anotherhour.
What does that mean? If I mean State and they took us
(07:51):
out of the lobby where we were getting, where I was starting to
question why it's taking so longand they put us in.
Like, I'll patient room like an empty attending physician room.
By ourselves for another hour towhile they, I guess caught up to
their work on man. Now I started wandering the
halls and then people fight. If I lie that are that are
(08:13):
counter by the came in, but theywere in and they were in there
for like five minutes and they're like, yeah.
We there's no one like him. We don't know anything, he's
kind of like an N of 1. So we'll just have to say.
And like they started to walk door and I was like, no, you
know, it's like I have questions.
Yeah. What kind of questions did you
ask why? I just said, like look I was
(08:34):
like, I'm not gonna hold you accountable because I know, you
don't know. But like just I can you give me
some kind of range or a baselineof like what could we expect?
As he as for his development, ashe any conditions Etc?
And that she didn't really have much, but she said he could have
a reading, he could have a reading delay and a speech delay
(08:54):
or he could be 25 years old in aburning building.
That's on fire. Not realize he needs to get out
like we don't know we're not going to know, we're just going
to have to progress and see there's no one with his medical
history that we can use as as a frame of reference.
So so that was our first really undiagnosed this with Marnie.
(09:17):
Yeah so you weren't you weren't really sure then at that point
what this mutation really meant and what what body systems it
might affect how to even I helped him along development Lee
so you're really up in the air at this point this to.
Yeah, maybe. So he's how old at this point?
(09:38):
He's a baby stove, right? Couple months six months.
Maybe like we had, we had no. Yeah.
We had no sense. Really.
I mean, it started to get a, we started to get a little bit of a
sense when there were certain developmental Milestones that he
wasn't, he wasn't, he had, he had some of the early early.
(10:00):
Ones. But there were a few that that
he was missing. He's very severely delayed even
today. With speech.
What is mobility? He was like, Not really, I
wasn't walking. He had he had low tone, they
were saying so he wasn't like walking.
When other kids start walking and low tone meaning muscle
(10:22):
tone. Yeah, he didn't really walk
until he was about 2 years old, maybe a little two-and-a-half
like it. He was definitely behind on.
That was crawling for a bit in that period, but we just tell,
he was obviously behind those milestones. speech was always
and speeches is something because of his cleft lip palate
(10:45):
and he's had a pretty significant speech delay where
We he was virtually unable to really say much other than like
m words like my mom. Never liked his mom best or
better. Hey it could have been the case
(11:07):
at the time. She was, she was she was, I was,
I was working, she was staying at home with him in.
There was a lot. She was putting a lot of time
into him. Thankfully, she was able to so
could have been the case, but that's to this day, you like,
you still can't really dude, he's very well.
So, what up, when he was around three or four e-stop, I stopped
(11:31):
really trying to get him to callme dad or Daddy, because he did
start to develop the ability to say peas.
So, We he switched he on his ownswitch to calling me Papa.
And that is what I am to this day to him.
Papa now, what's happening in the meantime, then Matt, with
(11:57):
the development of the cleft palate and cleft lip happening
in the meantime, what's going onis you're kind of just sitting
back watching this happen and yeah, I mean, okay, what's next
Yeah, I mean, so we lined up with the plastic teams and they,
they corrected, AS Palette, theycorrected his lip, they came the
(12:22):
they play. Stick surgeon at the hospital,
we went to was just phenomenal. Like, is truly like work of art
and During all that, there's other things that are now
bubbling up like, because it wascleft lip and palate, he was
never really able to be bottle fed.
(12:42):
Well, so he had like, he had an NG tube going for a longer for
six months, but That getting hitgetting that running it through
for him. He I mean he was like very just
he pull it out as a baby so we made the decision to switch to a
(13:03):
G-tube so he has like G2 button now and even to this day he
still getting, he's still getting the primary and
nutrition comes from. He gets about six cans of pedia
sugar a day. Through through his through his
G-tube, the we've done speech with done speech, clinics.
(13:24):
We've done feeding clinics Peace.
He had a couple of years ago about two to two or three years
ago he had PFF surgery. It's like posterior flap
surgery, where Essentially like he had to like kind of seal up,
(13:48):
I think. forget exactly what it was but like they, yeah, they
essentially like sealed up a bitof his the back of his throat or
his palette because there was like a big was a big like hole
between his Between his like nasal and his oral passages and
it was causing it was causing feeding and swallowing issues.
(14:12):
And Apnea type things. But through it all it's been the
happiest kid. You'll ever meet, it's my mean
like there's nursing teams at the hospital, we go to where
when they hear that he checked in these nurses and might not
even be him. They come running down the floor
(14:32):
because they want to say him like they just he's a he's a
little charmer I'm guessing he is just like she's just so sweet
like I'd say from a developmental standpoint, we
he's made a ton of progress for like from speech and If their
(14:55):
behavioral emotional these kind of like a, he's probably
developmentally on par with likemaybe a two or three year old
ranking. I'm sorry he's held again.
Well, so he's 10 but okay, he's probably in some ways.
He's a little more advanced, butI think on aggregate these about
(15:15):
developmentally on par between like a two and three year old.
Mhm. So are the doctors saying that
that's attributed to the? This is gene mutation at this
point, or is there something else?
Well, it's, it's They're not really saying it's tributed to
it. It's just, he has a, he has,
(15:37):
what's like, what's called? They're calling it.
A, my originally, it was a global developmental delay.
And now it's a now it's considered like a mild
intellectual delay with a significant speech delay are not
saying what it's really attributed to directly.
But whenever they're mentioning,what the whenever they're
(16:00):
mentioning, what the The runningdown is issues.
They always start with his genetic issues with his with his
translocations, and then they, then they they lead into that.
So of alluding to it at this point.
Is he and a in school, or special program, where yeah
(16:21):
Point? Yep.
No. I mean, no, he's so we got him
in. We got him into like early early
intervention like almost almost right away when he was when he
was when he was very young. He's going to his mainstream
school. He's got services that are
provided to him through the school district.
(16:43):
He's in breakout classes. He's got a pretty significant
IEP and there's he has like a one-on-one care while he's
while, he's in school. He goes to his special break
away like he starts his day withhis regular class and then goes
to his special breakouts. Comes back for like the special
activities like Jim and whatnot.There's other services that he's
(17:04):
qualified for where he'll have like a like a like a like a BSC
and like a TSA thinker so which is a whole nother care team that
kind of has come in and provideda lot of Behavioral and most
support for his development. What's his favorite class?
(17:25):
So he loves art and loves art. I think it's a combination with
Like art and Jim Wright. Like he loves the love Stone,
the physical stuff even if he's not really, like competing right
at Alma but he also he is actually he's very artistic in
that way and he just gets so proud when he comes home and he
(17:46):
even early stuff. When it was just like he just
you tell you just like slashed paying on a on a page, right?
He was just so happy to pop up, come on.
So it's not a, it's definitely the one that I think he takes
the most get enjoyment out of and pride.
Yeah, that's kind of do a lot ofit or with them.
So yeah. What the developmental?
(18:10):
Milestone issues ETC that you'vehad with him.
And that that journey is I understand it.
Matt, some other interesting symptoms came along and this is
what you're you're looking to get some answers for.
So talk about talk about that. I mean, it's not even that long
ago, September of last year. They were they were at their
(18:33):
mother's house and she notified me that he had a bloody nose
that wouldn't stop trying to getit to stop.
So it had gone on for almost a half hour and at one point he
lost Consciousness and which yousee would Panic anybody.
So she called 911, the ambulatory team came picked him,
(18:56):
got him, took him down to, you know, are the Children's
Hospital. In our area, where he was a, he
was admitted almost right away. I'm, I went to.
She was, she was in the ambulance with him and his
brother went with stayed with One of the grandmothers and then
(19:17):
I went down to the hospital to meet him there.
So I we all got there, we all got there at around the same
time. And I wasn't really sure like
what was going on because then nobody was.
But like, Wait, when they were taking them out of the
ambulance, he seemed like in somewhat good spirits.
(19:38):
Like he first thing he said to me was like almost Halloween
Papa which like, because it was close.
Well, I think okay, so he was just there was this kind of
operating on that topic for a while.
So we get him into the hospital.They've met him. and then at
while running some what they ransome tests and one of the things
(20:02):
that came back was that his platelet counts were really low
and his hemoglobin levels were really low, but he also had
like, a really high like, like areally high Lycra cichlid eight
count, which the the mixture of those numbers weren't telling
the like they weren't telling a clear story, so they They
(20:25):
brought in the hematology team, which essentially ended up
taking over from that point, he was in the hospital for a week
from the time he was admitted. And there was a lot of testing
being ran, he got multiple platelet and red blood cell,
transfusions and and then they did a bone marrow biopsy and
(20:46):
that is where they uncovered that his the cells in his bone.
Marrow are like In some ways only like ten to Fifteen fifty
and 10% of what they should be in a lot of air.
So there was like some there wasthere was there was definitely
(21:09):
concerned there and then and that is really started the
journey that we've been off since then.
None of this was on our radar asa real issue but Since then.
Like we have he is he's had he said a few other bleeding and
(21:31):
nose bleeding incidents. It's probably been hospitalized
since September about so six or seven times.
Well boy each time. is usually for, at least a At least 56 56
days because they have to they do is they get a Min, they get
(21:51):
his levels, right? The other thing that we battle
to is that We have to try to keep him healthy and virus free
during the first couple of like,during the first visit to the
hospital, he had. He had like, she had like a like
(22:12):
the flu or a virus of some kind,right?
Suppresses his bone marrow. He also because of his cleft lip
and palate and Souther, like neighs nasal thing, like the
pipes in his nose. Don't work the same way so he
can't blow his nose as easily asyou were.
I could be can't like I can't doit.
So there there, there tends to be a lot of vegetation as he
(22:37):
tries to like clear his name hisnasal passages and a lot often
what we've seen is a lot of times now they can lead to a
nosebleed which then doesn't stop, right.
Get low. But like what we found out over
the first couple of months was that every time we were trying
to get like an accurate read on what is counts were post the
(22:59):
transfusion to see like where where where things were He had a
virus, he had the flu, he had Mono, he had like, all these
things that kept clouding. The, the view of what is what is
actual cell levels, should be doing, and what is actual
(23:21):
platelets and, and hemoglobin should be doing.
So, what what Physicians are on his team right now?
Let me divide them doctors yet, strictly for this is he's
working with the hematology team.
Primarily we have looped in, we had the loop in the GI team
(23:44):
because His hemoglobin kept dropping and we couldn't figure
out why and they didn't seem to really be anything that it was
like. It didn't we thought, maybe
there was like an internal bleedaround somewhere.
In his G-tube site that might have been like just slowly
bleeding a little and it lowers it so we brought GI and and they
(24:11):
actually found a polyp on his Inhis butt.
That was a bat. Pretty, pretty inflamed.
They shortest nothing to be worried about their kids, get
these all the time. They're not cancer.
So So, they had to remove that recently, right?
(24:36):
It's a go, but like, we ended upgetting winded up, getting a lot
of testing done over the first couple of weeks and months after
this and they were they were first.
They were testing for things, like leukemia and Other types of
like rare rare rare Cancers and then other human hematological
(24:57):
conditions. And they pretty much ruled out
all the stuff that they were looking for.
Mmm. So which then left us in a spot
of, there's something going on with his bone, marrow affecting
his platelet production and possibly is hemoglobin.
And But we don't know exactly what it is.
(25:21):
We don't know what they're like.It's it didn't line up with
like, aplastic anemia because his levels were typically higher
than what someone classified with a place to give me me.
It would have liked his platelets.
Cannot attend to hovered right now around a 20 or 30,000.
(25:44):
The concern is that he's shown no ability to stop a bleed at 20
or 30,000 platelets. Like, the last time, a nosebleed
that hospitalized him, it's platelets, were around 25,000,
which they typically don't want to do a lot of stuff unless they
drop drop down to like ten is kind of like the scary scary
(26:05):
point. But is that how is that?
How this manifests through a nosebleed typically?
Have you met her? There's something going on.
Well, No. So like The nosebleed.
So like you can tell when his hemoglobin is low because he
gets like diaphoretic and like real, like, like winded and out
of breath running around. The nosebleed tends to indicate
(26:32):
that his platelet levels are lowbecause he's not able to clot it
and stop it, right? What we're told is that at
20,000, he should be able to stop a nosebleed, but he is not
being able to stop a nosebleed at 30,000.
Mmm. So we're kind of so like, they
haven't been able to classify itas Aplastic anemia, right?
(26:56):
Because you need to your levels accounts need to be
significantly lower for them forAdam to match that criteria.
and, I mean, the closest we got to a diagnosis was like
idiopathic Well, actually no a doctor we asked about, could it
(27:21):
be like idiopathic thrombocytopenic Nia?
And is that something that, you know, you had researched or is
that something passed out? We like, like like ITP is
essentially, like an unknown. It's well.
So idiopathic thrombocytopenic. Purpura is like an autoimmune
(27:43):
disease, right? As low platelet so it's not,
it's not TP, which would be like, immune thrombocytopenia
Torah. But It is it do what they've
basically called it. As idiopathic thrombocytopenic.
I, which is an unidentified cause of low platelets?
(28:06):
I'm like, frustrating thing is like, yeah, no kidding.
We thought we d 0 idiopathic anything is frustrating because
you have no answers as to where it starts and what's causing it.
So, what's on the what's on the list?
Next steps are, is that where things have stopped with this?
Diagnosis. No, I mean because it's because
(28:28):
like that's not even an officialdiagnosis that was me.
I tend to I tend to press the medical professional to give me
something like I know it's not that I It's not that I want to
hold them necessarily accountable but I'm like your
you have a lot of education and experience around this.
(28:52):
I'm sure your gut is telling yousomething like, tell, share that
with me and I just so that I cankind of put my head, where your
head's at like, yeah. How do you, how do you get move
through that process of pushing the Physicians to dig for more?
(29:13):
That experience Loney. It depends.
It really depends. I think on the relationship that
with the position they're there.Their experience or /
motivation. Like the thing I will say about
mark, C mythologist is I really feel like he, this doctor really
(29:36):
is fighting for Mark, and reallycares about him and wants to
resolve it and figure it out. He's also very like, there is a
scientific process that that hasto be followed around this and
an r and I respect that but likehis Indication like soon as we
(29:57):
get lab results we're he's on the phone with us.
Talking to through giving us histhoughts.
He Fields questions no matter how out there and obscure, they
might be like, asking, like should we be should we be giving
him like to we giving him this? We'd be not giving him that.
(30:20):
Is it, could it be this or that?And like, As a medical
professional, he probably. Well, I think a lot of times,
you ain't as a parent. Sometimes you ask these
questions and the doctors kind of like roll their eyes or their
like this is all right Google dead or Google mom and it's like
he never get that feeling from him.
He's always very willing to answer a question so he he has
(30:45):
done a fantastic job with this. Have you felt that way with
other doctors so maybe feeling? I mean we're It's but how would
you describe it? I mean, there's been other
scenarios with bark where we're like fighting to get to get him,
(31:06):
fighting to get him seeing fighting to get him.
Like fighting for like one of the things he doesn't fit the
classical mold of autism, right?And four years, there was a lot
of services and benefits that hedid not have access to because
(31:28):
he didn't have an Autism diagnosis. and, That was a
challenge for us. So we met with Developmental
Pediatrics and they were really unsure at the time about About.
Hey, like the argument is he's so social, like, he'll go up to
anybody and say hi and hug them and just send want to tell him
(31:51):
everything about what's going on.
That they're like he's the argument was like he's to social
for these two social to be autistic in this case.
But interesting and we got a second opinion and they they had
said he might be social but it'snot the right kind of social
like he's not going up and holding a real back and forth
(32:12):
conversation will go up and whole show you what's in his
hand or tell you what he wants to do or ask about the vacuum.
And you might try to ask him another question and he just
repeats the vacuum thing. I'm so he's got a high energy,
but is the social ability that he needed was, isn't there?
So it's not a conference at a conversation or an exchange
(32:34):
wasn't like a direct conversation.
And so then we were able to go back and really kind of advocate
like like you're saying that he's not autistic, but he's also
not not autistic like he's got to be some its Spectrum.
He's got to be somewhere on there.
Uh-huh. I've how he communicates What is
social ability is and they endedup winded up, it ended up
(32:58):
getting getting approved, that he had, he had a, he has a mild
autism diagnosis now. So he's able to get a lot of the
therapies that were closed off to him be fired, just because he
didn't have it. So I mean that was like
frustrating but positive outcome.
We've had, I did, you find how did you find those resources or
learn about those resources fromthe the autism standpoint?
(33:21):
So actually the rest of his careteam.
Like the nun, the non-physician care team.
So his BSC his TSA. They the like, what does that?
What does that mean? Matt.
Who are those things? Like, he's like a behavioral
specialist counselor there, likea behavioral services counselor
(33:42):
and they came to us through A state state sponsor.
Behavioral behavioral group. It was at one of the services,
they provided and we've worked with we've worked with with,
with them for a long four years,since he was a baby.
(34:05):
So let's be a see it time was a huge advocate for him.
And really as old cunt, like worked hand-in-hand with us to,
you know, do do ensure that the therapy treatment and treatment
plan that we were trying to execute was being done across
all all settings, right? So my house, their mom's house
(34:28):
school but then at the same timeshe ended up really beat, be
becoming a big advocate for For men was able to had access to
research, we didn't have was pulling that was putting us in
touch with other people to talk to to get to get language or
second opinion. So that was a huge.
(34:49):
That was a huge resource and asset.
So, where are the doctors now interms of where they think this
genetic mutation fits into the scheme of everything that's
going on with Mark? Yeah, so actually it was pretty
interesting, the hematologist was looking at his genetic
genetic Leia over like mutation and they said, he said that
(35:15):
there is a He can't, he doesn't know for sure but based on where
the I think deletion is in chromosome 22.
There is, it was right by a part.
It was right near like a gene orthe seller, whatever.
(35:38):
I don't know exact template thatcould could lead to.
Could could could indicate like low low platelet production or
something else, but it didn't really at that.
Then they ran like a like a pretty broad genetic tests on
(36:00):
him for a variety of things and like nothing really came back.
Like we didn't really get any hits, like what it did?
Was it ruled out some of the more rare conditions there's
like franconi or and like a few others that that it ruled Doubt.
Really though, I mean, what we what what we've been doing is
(36:20):
kind of monitoring and maintaining trying to maintain
certain levels for him. So like once a week, We're now
taking him to get blood work done.
They checked his bubbles if theydepending on where they're at.
If they're in a healthier safe space then he will he's finding
(36:42):
a home headed. If he needs a transfusion though
would then we're getting, we're getting a transfusion that week.
So we're averaging about a transfusion, every two to three
weeks at this point. Wow.
So it's like blood work and really what's breaking?
My heart is Just he's really starting to get uncomfortable
(37:02):
with the needles, the amount of needles.
I mean, I used to joke around, he got needles so infrequently
before that, he would get excited for them, so we'd be
driving the doctors, he'd be like needle, Papa, needle
needle, and like a yellow scaredwhen it came out.
But then he'd be done and he wasfine.
But now he's getting stuck everyweek.
(37:23):
Mmm times. If they don't get a good line or
they don't, they don't get a good stick, they got to take it
out. And do it again and when IV
stick is a lot different than just a blood draw stick.
So, like, yeah, how do you explain to him?
What's going on? Because of the developmental
level? That he's at Amanda, it's hard
because He's not always focused on your explanation.
(37:48):
Like, when you're taking him to the doctors for blood work, like
he's like pretty happy and jollyon the way in.
But once he gets in the chair and they start, they start
getting them prep. He starts to get panicky, and at
that point, it's like you can't,it's hard to calm down.
I mean, now we're just we're at a point where like just need to
(38:09):
get a couple of nurses that holdhim down and I hold fire, their
mom will hold them and At him and then they just, they get it,
they get in, they get out and they move over, huh?
And really it. Once it's done, he's like, he's
like a piece, like it's back to normal, he's wants to know, like
what are we going to? Like, can we go play now?
(38:30):
Like, but there's not much that you can really do to kind of
talk him through it, because likes like, Even if you had set
sat down had a long conversationwith him.
He he wouldn't be he wouldn't retained.
All the info the same way that worthwhile to do and I do sit
(38:51):
there. You know, it's like he's in
trouble for something. I will sit down with them and
like, have a have assets. Have a serious talk and I'm
like, you know what I'm saying? Mark and yes, and I know what
June is like you were done there.
It will be like Papa play. Like he like get home.
Them. He's got his little one track
mind that he's thinking of, but it's a lot, Matt, especially
(39:16):
with a big family and all the responsibilities.
And how would you speak to how this has affected your family,
and how do you cope with with this little guy and all he's got
going on? Yeah, I mean, I try not to think
(39:38):
too much about like all the other stuff Mark has going on as
like anything other than just like this is Mark.
Like like there's no perfect youknow, right?
You know wrong like this is him and like there's no regret like
there's nothing. There's no lamenting, like a
different version of Mark. Like this is him and honestly,
(39:59):
he's a blessing. What is what has been
challenging is with this? No bone marrow, IT issues that
we're facing in the and the bleeding concerns in the blood
levels. Like, it is a very traumatic
experience for Mark when he goesinto the hospital with a bleed
(40:20):
that won't stop. It's a very traumatic experience
for all of us to witness it sometraumatic for his younger
brother. Who Doesn't doesn't quite like,
I mean, it's like younger brothers asked me in the past
like was is marking a die. And I'm like, that's a good kid.
(40:43):
It's a good question to ask and I you should because you're
definitely allowed to ask it butWe're all going to die someday,
but he don't like is Mark dying right now.
No, we don't think so. The doctors are working to take
care of them, and everybody is making sure he's safe and
healthy and but it breaks your heart when your kid asked that
(41:06):
because they don't know they're coming from a place of fear and
innocence, right? So it's a hard.
That's a hard question to to tryto answer and then you go to
bed. And what do you think about it
night, Matt? I mean I tried look as a parent,
it is very easy to go to the darkest place in your mind about
(41:28):
what's going on with your kid. What could happen?
What would how would you feel ifit did happen?
Like And I really every time I get like a negative thought,
like, what happens like, could he die it?
Can he die from this? Theoretically, yes, but is he
there now know so like I really kind of like conditioning my
(41:54):
brain, but like when I start thinking - I tried I will like
look at happy smiling moments with Mark on my phone or I'll
think of something where becausehe is, so positive through it
all. Like I keep telling myself like
who am I to not take his attitude through this as like an
(42:17):
example to to follow, right? Like, who am I to ignore?
Where his your yeah. He's your role model.
Your hero. Yeah.
And he shouldn't be here. You're his hero yet.
So. So, what's next for him?
What's next steps for you, for you to figure out what's going
(42:37):
on? So, really the treatment options
that we've been presented as like the main treatment options
are He's likely would likely need a bone marrow transplant at
some point, which is has. It's concerning like that.
Just like that a neat. It's super easy procedure.
(43:00):
And there's a lot of there's risks involved.
The other potential option wouldbe like immune immune therapy
immune immune suppression therapy which my understanding
is he's given drugs that would essentially eradicate his immune
system and then for a period of time and then he's given drugs,
(43:23):
that would help rebuild it from scratch, my concern, there is
that he Mark is the kind of child that if he's walking down
the street, he will pick go. Come up off the ground and chew
it. Not really even tell you just
how dumb and that he's sick. He's constantly dealing with the
cold or sniffly nose or something like that, because of
(43:46):
thing because of his self self self care abilities.
So, so there's a little bit of alittle bit of concern about
that. Also, those are the two options
that we've kind of been presented with, did game and
hematologist. Did do a lot of the legwork for
us with insurance so that like, we can start We could start
looking for a bone marrow transplant.
(44:07):
Donors, they did find a few likewhat's considered a perfect
match. I think they found 12 in the
database that match and and 12. There's about maybe two or three
that are considered a perfect match.
So I'm so you got to make sure they're still willing to donate
but Prior to that, we had had blood work done on his brother
(44:27):
because they apparently your sibling is your best potential
mesh, right? So, um, Yeah.
So and then really before they do any of that which could still
be another six to eight months out there, Mom.
And I actually have to go soon and get genetic genetic testing
(44:48):
done because what the doctor wants to do is run a essentially
identify if there's any genetic markers in us that would lead to
a higher risk. Bone marrow, transplant failure,
or rejection and they apparentlythey can uncover that by doing a
(45:09):
really broad a really wide genetic genetic profile on both
of us. Interesting, have you had any
difficulty with getting genetic?Testing approved.
No. I mean not in.
Getting it approved. Like the doctors.
Absolutely will do it or I mean like like the teams will do it,
(45:30):
it just all has to go through. It has to go through insurance,
right approve. And that's where I think our
doctor has been a great advocatefor us because he knows exactly
what to say to get it approved. He's not lying like If I were to
call up and do or try to deal with the insurance company and
(45:53):
be like, I my kid needs a genetic test, I wouldn't be able
to speak to it in a way. Where's their doctor?
Where's our doctors? He's been fantastic about that.
Wherever we have a reason he's making the case for you.
Exactly? Yeah.
Yeah, that's great. So Matt, what what would you say
(46:14):
you've learned about the Health Care system from this process?
I mean, I think like my biggest my biggest frustration with just
the Whole Health Care process islike I think there's like
there's no accountability to actually provide answers.
(46:40):
It feels like and I get that andI know where that comes from.
In that like all the malpracticethat has happened over the years
and as the, the lawsuits and absolutely Doctor doesn't want
to say, well it's it could be this and then it's not and
something else happens and then like, but like I think there
(47:03):
needs to be some kind of agreements, I'd love I'd, I
would sign an agreement or doctor to just speak freely, to
me, well, what thinking, what doyou think?
I like won't hold you accountable, but give me some
things that I can just read up on to bring myself more up to
speed like It's very frustratingwhen they know there's something
(47:25):
wrong you don't know what it is.And all they're doing is
checking the where they were like, what's the current status
now? Does it do we need to do
something right now is plateletslow now.
No, okay, then he's fine, you can go and it's like, but I
still like what? I like the place I go when you
(47:49):
do that for months and you don'tknow what Heck, it could be
causing what what they're checking for.
It's frustrating, they were yeah.
Limbo is a hard place to be and you've been there for a while.
Now, if if the Healthcare Systemadopted what it is, you're
suggesting in terms of being able to have a very open
(48:11):
conversation, how would that change your journey thus far,
and going forward? Well, I mean like, So you're
told what are the symptoms of something that unknown, right?
Like we don't know what it is but these are the symptoms that
your child is experiencing Come see us in a week.
(48:33):
Now, you're looking up all the symptoms, right?
And it's freaking you out. Like I think that the amount of
emotional trauma that people inflict on themselves with
unknown diagnosis or Medical issues.
It's not all about knowing definitively like two or three
(48:54):
potential outcomes that could beit's not knowing anything and
then doing your own crazy research with not it's not that
the research is crazy, but there's just so much out there.
Well, huh, links to so many other things and you can really
drive yourself nuts. Like, trying to, like, wait a
minute. Okay, hold on.
(49:16):
He has this. And now That says, it could be
this kind of cancer, which killsthem in 3 months, what's going
on? Like, you can really scare
yourself silly and With with L, any kind of real frame of
reference, just trying to research on symptoms.
So, like, I could sign somethingin the doctor could just be,
(49:37):
like, look, I definitely don't think it's these these couple of
things. These are the three things I'm
looking into. You might want to read up on
yourself. Can't say it's any one of them,
but I feel like I have enough ofan understanding of what's going
on with your son. That these are the ones that I
want to look into more. Some, that would be Like a
(49:58):
really educational. I feel like it'd be like a
partnership dynamic between you and the you and the doctor, but
the, but as a, as a parent, you'd have to be willing to
mitigate or own some of the riskof the doctor like you'd have to
free the doctor of the risk of like well if there's one thing
in there that I said, that wasn't a hundred percent
(50:19):
accurate. Now my entire practice or
livelihoods at risk. Sure.
Yeah. It's white regard themselves, I
get it but like there should be an option for people.
People to kind of weave that fora more transparent conversation.
Yeah. Sounds like the bottom line for
you is you're looking for collaboration with your your
son's Physicians. What would you Matt if there
(50:41):
were other parents in your position who got to the point of
Bringing in their child, with this list of symptoms and going
months without answers. What would you suggest to them?
What would you advise them to doand how to manage through the
system to get answers? Yeah, I mean it's different for
(51:01):
a lot of people. We're lucky we're in an area
where we have some of the best medical care in the world.
If you are in a more rural area,you might have to travel to one
of these markets that has a top top tier physician team that can
be that can be challenging, especially Depending on like
(51:22):
what kind of insurance you have.And so there's a ton I would say
if like what I think has been really helpful for for us is
that like we found a physician that cares about our son.
(51:43):
Like he truly cares about our son to be honest.
He's not the most, like he's a pretty young doctor likes, not
like a Like is published all over.
Like he's very, he's very successful but he's a younger
doctor, there's older people in the hematology team had his
hospital that We, I guarantee wewould not have had as good of an
(52:06):
experience with, because of justtheir 10-year there, there their
bedside manner there. Variety of those reasons.
I would say if you're talking, if you don't feel like the team
or the doctor that you're working with passionately cares
about the Health and Welfare of your child, it's, you'll do
(52:28):
better finding a doctor. Maybe less less credential, but
more compassionate to work through and talk through with
you. And, I mean, we're lucky.
Our doctors. Well, credentialed and
compassionate, but But I would take.
I mean, I yeah I would take, I would take take, take a more
(52:50):
empathetic doctor than a more than a more established but less
less. Collaborative or or
compassionate mmm-hmm. So, empathy empathy compassion
is more important for you at this point as a parent.
(53:12):
I mean, watching your kid go through something, that nobody
even the top medical Minds in the in field, don't really have
an answer for like, someone's got to be understanding to that,
right? What's and what's an example of
how your physician your hematologist has demonstrated.
Strated that I mean like so we get blood work every week,
(53:34):
right? And I mean, not two minutes
before we get the notification in a, on our phones are in our
email that the results are back.Both our phones are ringing from
the doctor calling to talk it through with us.
Well, he always, he always give this time anything, you've read
(53:55):
anything, you've learned that you want to talk about.
I mean, I mean, I've gone Gone down some rabbit holes, right?
And it's really easy to go down.And I've brought up things that
could be couldn't be and He's never made me feel like I was
some wild conspiracy parent, trying to trying to think I'm
(54:19):
smarter than the doctors, like he's always had a very
evidence-based research based discussion around everything
that I and again, I'm not pointing the fingers anywhere,
but I am just like I'm trying toI'm looking for anything to try
to get some answers and he's ever made me feel bad about
anything that I've come across. And asking about it.
(54:41):
And he so that's like, that's really to me that's next level,
because a lot of time I've brought things up to doctors in
the past and they're like, nah, now there's research around it
that says that and I'm like, my first question is always yet how
many people were included in that research, that have the
same genetic genetic history. As my son is, my argument would
(55:05):
probably be 0. So, how do you know everything
that you're telling me? Which was researched is okay for
Mark. Might be okay for my other Sons,
my daughter because they've beenmore normal.
Genetic makeup of Mark. How many were like him in that
study? And Then it's been really, it's
been really a great experience. So, with working with our
(55:27):
hematologist, he's done a great there.
Any are there any Silver Lining singer for you, Matt?
I mean, Silver Lining is. There's nothing, nothing will
stop you in your tracks, as a parrot more, the than the fear
(55:48):
of something being wrong with your, with a child.
And I think when everything is kind of, okay, as a families,
especially big families but it'swe do have.
We all have our little lives that were managing on top of the
rest of the people that are in our lives.
And it's like, things can get bebusy with me or my wife, or our
(56:10):
daughter has a lot going on the college or High School, sons are
busy with that stuff and you just getting like a everyday
flow of life, but then when something like this kind of
presents itself, you have to pump the brakes.
And you do get, there's, you do spend a lot of time reflecting
(56:31):
on what's What's important, whatgets you through these things
and it's it brings everybody. I think it has brought everybody
closer in terms of like a concerned focused effort on Mark
and his care. It's reinforced that me and
(56:51):
their mother. Are both truly cut like a good
co-parenting. Team United for his best
interest. So those are some soy mean,
those are some Silver. Linings, I guess it's it.
It makes you pump the brakes andkind of appreciate everything.
(57:14):
Everyone around you a little bitmore and It certainly.
Certainly made me appreciate Mark and everything.
That How brave and how strong and how resilient this.
Medically, fragile and challenging child as he's one of
the strongest, strongest and most beautiful, just inspiring
(57:39):
people I've ever met and I just can't believe he's my son.
Aw, well, yes, these things do give you perspective in terms of
what's important. And I think you figure that out
and I'm sure he would have wonderful things to say about
his super dad to what do you wish for him, man?
(58:01):
For Mark. I mean I wish I just wish for
him too. Just be happy.
I mean it's not there for any ofmy kids.
Like, I wish that he didn't haveto normalize his medical
challenges in his own mind, likeit's normal for him to have to
(58:27):
get blood work. He doesn't like it, but it's
normal. Like I wish that that didn't
have to be normal for him brother.
Another like his other siblings.Like they go for blood work once
a year, right? Mark's gone. every week, every
at least once a week sometimes more so I, I just want him to be
(58:54):
happy. Yeah, one of them be happy.
I want them to be healthy. and, That's it.
That's all. So, you can ask for his
apparent. Everything else is out of your
hands. Yeah.
While that's pretty basic, but pretty significant at the same
time. So, Matt, thank you so much for
(59:15):
talking us through Mark story. And I'm hoping that maybe we
could get a follow-up from you at some point with regards to
what you make decide with his treatment or how the genetic
testing process, go. Goes, if you're going that
route, we'd love to have you back.
Absolutely. Yeah.
(59:36):
I'll keep you posted credit to you.
I really appreciate you following up with me and
checking in on him. Like it just means a lot.
It's nice to know people out there care about his well-being.
I actually have a couple of clients that I work with that,
just because I heard there was aperiod of time where I was out
(59:58):
of work while taking care of his, like, in the Little the
info just kind of came to them like a, my son steal something,
and I've just been like I mean, it's beyond like a work
relationship, right? And it makes you feel a little
less alone in the process. Well huh well it's a huge
reflection on you, man. Terms of how you treat people
and she is a product of you and so I'm sure he was an amazing
(01:00:21):
kid. Like I said I've only seen
pictures but he seems like a pretty amazing little guy.
So so thank you for that Matt and I'll hope to bring you back.
On again be great. Thanks so much.
All right. Thanks, Matt.
Oh my goodness, that's a wrap onanother compelling story.
(01:00:44):
Thanks for listening to the desperate for a diagnosis
podcast. If you would like, more
information about today's guestsor to find out more about Laura
me, go to desperate for a diagnosis.com.
If you enjoyed the show, Please Subscribe rate and review the
podcast on a podcast Spotify, YouTube or wherever you get your
(01:01:04):
podcast. You can also follow show updates
and Healthcare news on the podcast.
Facebook page. If you would like to be a guest
on the show or if you have any questions advice or suggestions
for our guests, please email me at Laura Marie, A desperate for
a diagnosis.com.
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